MSH2 Gene Deletion Status (Full Mutation Analysis)
This test checks for mutations in the MSH2 gene, which is linked to hereditary non-polyposis colorectal cancer (HNPCC) and other Lynch syndrome-related cancers. It helps determine if you carry a full deletion mutation in this gene.
["This test may be used if you have a family history of certain cancers or symptoms suggesting Lynch syndrome."]
Key facts at a glance
- LOINC
- 92675-8
- Short code
- MSH2 gene Del+Dup + Full Mut Anl Bld/T
- Synonyms
- MSH2 gene Del+Dup + Full Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- Specimen volume
- 3 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 4–24 hours
- Order
- routine
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you have a strong family history of colorectal cancer, endometrial cancer, or other Lynch syndrome-associated cancers. It could also be suggested if you’ve been diagnosed with a cancer linked to Lynch syndrome, even if you don’t have symptoms yet.
What to Expect Before the Test
You’ll likely have a simple blood draw, where a small amount of blood is taken from a vein in your arm. The blood sample is then sent to a lab for genetic analysis. No special preparation is needed, but inform your provider about any medications you’re taking.
What the Results Mean
If a full deletion mutation is found in your MSH2 gene, it means you carry a significant genetic risk for Lynch syndrome-related cancers. This information can guide future cancer screening and prevention strategies. If no mutation is detected, it doesn’t rule out Lynch syndrome—other genes may be involved.
What Happens Next
If a mutation is identified, your healthcare team will discuss next steps, which may include closer monitoring for cancer, additional genetic testing, or recommendations for cancer prevention strategies like regular screenings.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
MSH2 mutations are associated with Lynch syndrome, a hereditary condition that increases the risk of certain cancers, including colorectal, endometrial, ovarian, and others. Early detection and monitoring can improve outcomes, so this test helps identify individuals at higher risk for early cancer development.
Short name
MSH2 Mutation Test
Frequently asked questions
What does a positive result mean for my cancer risk?
Will this test show all possible Lynch syndrome-related mutations?
Can I get this test if I don’t have symptoms or a family history of cancer?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy